LACTB2 lactamase beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LACTB2provided by HGNC
Official Full Name: lactamase beta 2provided by HGNC
Primary source: HGNC:HGNC:18512
See related: Ensembl:ENSG00000147592 MIM:618921
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI-83
Expression: Broad expression in testis (RPKM 25.7), kidney (RPKM 23.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	8	NC_000008.11 (70637266..70669185, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (71549501..71581420, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This genome-wide study of never smokers from the general population identified two independent regions related to erythrocyte cadmium. The strongest locus covers the XKR9 and LACTB2 genes, which both could have related functions in cadmium absorption and metabolism
Title: Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers.
this study discovered that LACTB2 is an endoribonuclease that is involved in the turnover of mitochondrial RNA, and is essential for mitochondrial function in human cells.
Title: Identification of LACTB2, a metallo-β-lactamase protein, as a human mitochondrial endoribonuclease.
Disruption of NCOA2 by recurrent fusion with LACTB2 in colorectal cancer
Title: Disruption of NCOA2 by recurrent fusion with LACTB2 in colorectal cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31052 (e-PCR)
- UniSTS:1635

SHGC-141879 (e-PCR)
- UniSTS:184697

RH98763 (e-PCR)
- UniSTS:91517

Homology

Homologs of the LACTB2 gene: The LACTB2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 427 organisms have orthologs with human gene LACTB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endoribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables endoribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables single-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA phosphodiester bond hydrolysis, endonucleolytic	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endoribonuclease LACTB2

Names: beta-lactamase-like protein 2; testicular secretory protein Li 23

NP_057111.1

EC 3.1.27.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016027.3 → NP_057111.1 endoribonuclease LACTB2

See identical proteins and their annotated locations for NP_057111.1

Status: VALIDATED

Source sequence(s)

AC022731, AF151841, DB445101

Consensus CDS

CCDS6208.1

UniProtKB/Swiss-Prot

Q53H82

UniProtKB/TrEMBL

A0A024R811

Related

ENSP00000276590.4, ENST00000276590.5

Conserved Domains (1) summary

cd07722
Location:14 → 203

LACTB2-like_MBL-fold; uncharacterized subgroup which includes human lactamase beta 2 and related proteins; MBL-fold metallo hydrolase domain